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In March 2016 the first ever medical book on Mast Cell Activation Disease was published by world leading American mast cell expert and hematologist/oncologist Dr Afrin. It’s a weighty tome, over A5 in size and 400+ pages long though the actual book only takes up the first 200 pages, with the latter half devoted to an extensive medical dictionary.

Although it’s supposedly aimed at patients, with witty titles like ‘Well, we’re in a world of s**t now: gastrointestinal findings in MCAS’ you will struggle to read this book without a good education, basic knowledge of medical jargon and a grounding in mast cell disease. It is not for the faint hearted or the severely brain fogged! Having said all that I had some light-bulb moments which I’ll outline below and it was incredibly reassuring to read about my disease from someone who truly gets it.

The book covers every aspect of MCAS, from rashes to thinning hair, lung problems to bladder pain, hormones to blood findings and everything inbetween. There is an extensive chapter on diagnosis & gene testing, and an even larger chapter on treatment. Of course, none of the diagnostic tests are available in the UK and neither are many of the treatment options which is frustrating as all hell and the reason I don’t frequent any MCAD forums or groups – hearing about all the testing and treatments American patients receive is just depressing and makes me very despondent.

The book is way too large to cover in detail, but I thought I’d share some of the sections which particularly stood out for me:

“Hair (especially on the scalp) often becomes brittle and dry and patients often go through cycles of increased hair thinning and loss”. See this post regarding my own alopecia.

“The nails become brittle and weak and don’t grow normally. They often acquire longitudinal ridges…..” See this post, which explains my nail growth problems and weird longitudonal ridges which maybe aren’t so weird after all!

“MCAS patients also often cause their dentists fits because of how much dental and peridontal deterioration occurs, even when the patient has always been good about attending to dental hygiene.” I’m going to print this bit off for my Dentist as he constantly tells me I’m brushing my teeth too hard which is why my gums are receding early, and I keep telling him I do not!

“….one of the end effects of mast cell disease’s impact on the immune system is impaired healing”. Coupled with the delayed healing of Ehlers-Danlos it’s a wonder my wounds knit together at all!

“….Fibromyalgia is a diagnosis that MCAS patients have frequently acquired at some point along their diagnostic paths……….random skin biopsies in fibromyalgia patients have been found to harbor roughly ten-fold more mast cells than random skin biopsies from healthy people. This of course doesn’t come anywhere close to proving that fibromyalgia is a variant of MCAS but it’s nevertheless an interesting observation.”

On the subject of diagnosis: “Are there ‘odd’, ‘strange’, ‘weird’, bizarre’, ‘unusual’, ‘mysterious’ symptoms and findings? (….many patients with unrecognized MCAS have long had chart entries incorporating exactly these words).” When I was having seizure-like episodes and “bizarre” (what I now know to be anaphylactic!) reactions to all drugs my GP told me not to tell any other doctor as they’d think I was mental 😦 So I kept my symptoms quiet for nearly a decade, putting my life at risk in the process.

The book contains a few pages on H-EDS. Dr Afrin states “here’s the really weird thing about type III EDS: it’s actually not a genetic disease – at least, not as far as decades of research into connective tissue genes and proteins have been able to discover………..it might be the case that, for at least some EDS Type III patients, the problem lies not in the normal assembly of allegedly mutated connective tissue proteins into connective tissue that functions abnormally but rather lies – due to aberrant mast cell mediator release – in the abnormal assembly of entirely normal connective tissue proteins into connective tissue that functions abnormally? I’m going to really stretch the bounds of how far one should anologize by saying this, but I’ll say it anyway: could EDS type III be a ‘connective tissue autism’ in which normal connective tissue proteins are connected in abnormal ways vaguely akin to how in autism normal brain cells are connected in abnormal ways (possibly, in some patients, as a consequence of abnormal mast cell mediator release)?”.

I admit I found his opinion on H-EDS difficult to read. I, and many other people, fought a very long (in my case 40 year), frustrating and difficult journey to have our connective tissue disorder recognised and to have the diagnosis questioned is tough. There is also the pedantic point that there is now no such thing as “type III EDS” it is called EDS-hypermobile type and for another if it’s not genetic how come I inherited mine from my Mum? He may turn out to be right that H-EDS is a form of Mast Cell Disease rather than a genetic mutation of connective tissue but I know many H-EDS+MCAD sufferers who are having their MCAD treated with little, or no, effect on their EDS which has to raise questions. Of course, I’ve also heard from supposed H-EDS sufferers who say that treating their MCAD “cured” their hypermobility – my answer to which is that they were possibly misdiagnosed and didn’t have H-EDS to start with (H-EDS is so much more than simply being hypermobile). The truth is no-one currently knows the origin of H-EDS, though the inheritance factor is undisputed.

In contrast to the section on H-EDs, I found the chapter on genes mirrored my own thoughts on the subject to a T. “We’ve been hearing for several years now that the era of genomically personalized medicine is almost upon us, a time when…….we will be able to determine anybody’s complete genetic code which – and here’s where we wave our hands in a magic gesture – will tell us all that’s wrong with us now and all that’s likely to go wrong with us. Yeah, right. If only…….. A dollop of your saliva….produces pages and pages and pages (of information)…..you have Mutation code A, which puts your risk for Disease B at Level C….and so on…..You forward this information to your doctor……and he says ‘there’s a lot of stuff here, and the truth is, we really don’t yet know what 99.99% of this stuff truly means and there’s nothing to be done about it at this point anyway’. And he’s exactly right.”

Amen to that. There are people on forums on the internet who seem to spend every waking moment of their lives analysing their genetic data. They’re obsessed. And for what, exactly? Having a specific gene mutation does not mean a damn thing and certainly doesn’t determine your risk of developing a particular disease, just like not having a gene mutation doesn’t mean you have a clean bill of health. My 23andme results said I didn’t flush (wrong), have a tremor (wrong), have migraines (wrong) or have Dupytrens Contracture (which may or may not be wrong, my Mum developed hers in her 60s and her sister and brother in their late fifties, so I’m not yet old enough to know if I’ll develop it too). No gene has been associated with migraine disorder in any even, so how on earth the company can say you do not have mutations linked to migraine is utter bollocks. However, there are exceptions to the rule, for example the BRCA gene which increases the likelyhood of female related cancers exponentially. In mine, and Dr Afrin’s opinion, gene testing is going to become incredibly important to health care in the future, but we’re just not there yet.

Having said all that, there is some interesting information on KIT, thought to be the most important genetic controller of mast cell activity, in Dr Afrin’s book that’s well worth a read.

If you have a good general understanding of medicine, and mast cell disease in particular, I can highly recommend this book. If you don’t, you may struggle. Available in hardback from both UK and USA Amazon: UK cost approx £13.

Welcome!

Hi. Thanks for visiting my Blog. Posts are listed newest first, but if you’d like to start with my first rambling written in 2013 click here. I’m not a mast cell or EDS expert and have no medical training. I’m just sharing my own personal thoughts and journey. This isn’t a forum, more a diary, but polite, respectful comments & questions are welcome – click the ‘leave a reply’ link under post titles or scroll to the end of each post and use the comments box.

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